Types of testing

A brief overview of the types of testing follows:

1. Chromosome analysis (karyotype) of amniotic fluid and fetal blood
   Examination description:
   Amniocentesis and fetal blood sampling carries out a qualified doctor after consulting the pregnant patient with a geneticist. Amniocentesis is usually performed between 16th and 21st week of pregnancy, fetal blood sampling from the 18th week of pregnancy. Most of the chromosomal abnormalities of the fetus comprise the numerical deviations (aneuploidies) of chromosomes 13, 18, 21, X and Y. This is mainly a redundant copy (a trisomy) of chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome), X (XXX syndrome, Klinefelter syndrome) or a missing copy (a monosomy) of chromosome X (Turner syndrome). Besides the numerical deviations of chromosomes are by the examination detected also chromosomal abnormalities such as deletions, duplications, inversions or translocations. The examination is limited by its ability to detect the aberrations with a minimum size of around 10 Mb. Besides the chromosomal karyotype examination we perform the Amnio-PCR examination, which is used to quickly detect the most common trisomies of chromosomes 13, 18 and 21 with the possibility of sex determination and exclusion of numerical deviations of sex chromosomes X and Y. Amnio-PCR method does not replace karyotyping, but its main advantage is the speed of carrying out this method. Usual time needed for issuing the result is within 24 to 48 hours.

   Indications for examination:

   1. Positive biochemical screening
   2. Fetal abnormalities detected by ultrasound
   3. Higher age of the pregnant
   4. Genetic load in the family

   Material for examination:
   The own sampling is being carried out at a specialized clinic by professionally trained personnel under the control of ultrasound. For the karyotype and Amnio-PCR examinations from amniotic fluid cells is needed 15-20 ml of amniotic fluid split already during the sampling into 2 sterile vials. For karyotype determination from fetal blood is needed a sample of 1-2 ml of fetal blood into a tube containing anticoagulant agent (heparin). For the Amnio-PCR examination from fetal blood should be further 0.5-1 ml of fetal blood collected into a tube with purple cap (EDTA). For the Amnio-PCR testing is recommended to attach a cheek swab of the patient. The collected material has to be transported to the laboratory as soon as possible after the collection.

   Examination result:
   Karyotype of the amniotic fluid in 2-3 weeks.
   Karyotype of the fetal blood in approximately 7 days.
   Amnio-PCR in 48 hours.

2. Chromosome analysis (karyotype) of chorionic villi and aborted fetuses
   Examination description:
   Chorionic villus sampling carries out a qualified doctor after consulting the pregnant patient with a geneticist. Chorionic villus sampling is usually performed between 11th and 15th week of pregnancy. Most of the chromosomal abnormalities of the fetus comprise the numerical deviations (aneuploidies) of chromosomes 13, 18, 21, X and Y. This is mainly a redundant copy (a trisomy) of chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome), X (XXX syndrome, Klinefelter syndrome) or a missing copy (a monosomy) of chromosome X (Turner syndrome). Besides the numerical deviations of chromosomes are by the examination detected also intrachromosomal aberrations such as deletions, duplications, inversions or translocations. The examination is limited by its ability to detect the aberrations with a minimum size of around 10 Mb. Besides the chromosomal karyotype examination we perform the Amnio-PCR examination, which is used to quickly detect the most common trisomies of chromosomes 13, 18 and 21 with the possibility of sex determination and exclusion of numerical deviations of sex chromosomes X and Y. Amnio-PCR method does not replace karyotyping, but its main advantage is the speed of carrying out this method. Usual time needed for issuing the result is within 24 to 48 hours.

   Indications for examination:

   1. Positive biochemical screening
   2. Fetal abnormalities detected by ultrasound
   3. Higher age of the pregnant
   4. Genetic load in the family

   Material for examination:
   The own sampling is being carried out at a specialized clinic by professionally trained personnel under the control of ultrasound. For the examination it is needed to take a few piece of chorionic villi (ca 10 mg) or a piece of aborted fetal tissue and place it in a sterile tube, to which will be added ca 5-10 ml of physiological solution. For the Amnio-PCR examination it is recommended to attach a cheek swab of the patient. The collected material has to be transported to the laboratory as soon as possible after the collection.

   Examination result:
   Karyotype in 2-3 weeks.
   Amnio-PCR in 48 hours.

3. Chromosomal examination (karyotype) of peripheral blood

   Examination description:
   Karyotype examination is one of the basic tests that are indicated on the basis of genetic counseling in outpatient genetic clinics. The examination is recommended in case of suspicion of the presence of a congenital chromosomal aberration in the karyotype of the patient. This relates both, numerical deviations of whole chromosomes and other, intrachromosomal abnormalities such as deletions, duplications, inversions or translocations. These aberrations can cause physical, mental, developmental or reproductive abnormalities in patients. The examination is limited by its ability to detect the aberrations with a minimum size of around 10 Mb.

   Indications for examination:

   1. Physical, mental or developmental abnormalities
   2. Reproductive system disorders
   3. Genetic load in the family

   Material for examination:
   For the karyotype examination is needed 4-5 ml of venous blood into a tube (by small children 1-2 ml into a small tube) with anticoagulant agent (heparin). The blood must be immediately after the sampling mixed by several motions.

   Examination result:
   Karyotype within 3 weeks.

4. Examination of microdeletion syndromes (Prader-Willi syndrome, Angelman syndrome, Di George syndrome etc.)
   Examination description:
   Microdeletion syndromes are a group of syndromes characterized by a small missing part of the chromosome (deletion). These aberrations can cause physical, mental, developmental or reproductive abnormalities in patients. Such a submicroscopic structural abnormality is by a classical cytogenetic examination difficult to detect. The deletion often affects a large number of important genes necessary for a correct functioning of the organism. The analysis of microdeletion syndromes is performed using FISH method on a fluorescence microscope using fluorescently labeled probes hybridized to the part of the chromosome with the supposed aberration. This method is used in cases of suspicion of a specific syndrome. Another method, with much greater display resolution, which reveals most syndromes without prior suspicion of a specific syndrome is the method of Array CGH. FISH analysis and Array CGH can be performed from peripheral blood, amniotic fluid, chorionic cells, aborted fetal tissue or fetal blood.

   Indications for examination:

   • Positive biochemical screening
   • Fetal abnormalities detected by ultrasound
   • Higher age of the pregnant
   • Physical, mental or developmental abnormalities
   • Genetic load in the family

   Material for examination:
   For FISH analysis according to the taken material see karyotyping of peripheral blood, amniotic fluid, chorionic villi, aborted tissue, fetal blood.
   For Array CGH testing

   • DNA
   • blood collected in a tube with purple cap (EDTA)
   • amniotic fluid, chorionic villi, aborted tissue – according to the taken material see karyotyping of amniotic fluid, chorionic villi, aborted tissue

   Examination result:
   According to the taken material.

5. Examination of chromosomal mosaics
   Examination description:
   There are at present about 15 to 20% of infertile couples in the population. By 5 to 13% is the infertility caused by chromosome aberrations. Among the most common belong the sex chromosome (gonosome) aneuploidies causing the known syndromes such as Turner syndrome (45, X) in females and Klinefelter syndrome (47, XXY) in men. These syndromes can occur also in a mosaic form. This means that the aberration is not present in all cells of the examined person, but only in some of them. The rate of mosaicism is associated with fertility problems and can be determined by FISH method. This method uses fluorescently labeled probes hybridized to the examined chromosomes. Utilizing a fluorescence microscope we can visualize these probes/chromosomes and determine the percentage of the examined cells, in which this aberration occurs.

   Indications for examination:

   • Physical, mental or developmental abnormalities
   • Reproductive disorders
   • Genetic load in the family

   Material for examination:
   For taking a sample of peripheral blood is needed 4-5 ml venous blood into a tube containing anticoagulant agent (heparin). The blood must be immediately after the sampling mixed by several motions.

   Examination result:
   Within 3 weeks.

6. Examination of couples with fertility disorder
   Spectrum of the examinations proposes after the consultation a clinical geneticist. Most often it is a chromosomal examination of peripheral blood, examination of chromosomal mosaics, examination of cystic fibrosis and Y chromosome microdeletion analysis.
7. Examination of sperm and oocyte donors
   Spectrum of the examinations proposes after the consultation a clinical geneticist. Most often it is a chromosomal examination of peripheral blood, examination of cystic fibrosis, examination of spinal muscular atrophy and examination of thrombophilic mutations.
8. Chromosomal examination of newborns, children with psychomotor retardation, congenital malformations, hypotrophy, immaturity, stillborn children, etc.
   Spectrum of the examinations proposes after the consultation a clinical geneticist. Most often it is a chromosomal examination of peripheral blood and examination by Array CGH method.
9. Molecular examination of the gene for cystic fibrosis – 50 most common mutations
   Examination description:
   Cystic fibrosis is an inherited disease with a severe prognosis, which is caused by an inherited mutation in the gene for cystic fibrosis (CFTR). According to recent researches in the Czech Republic borns every year one child with this disease to 2700 newborns. From the above mentioned researches it also follows that each 26th individual is a carrier of the mutation in the CFTR gene. Cystic fibrosis is a disease which manifests itself by a very thick mucus production (up to 10 times thicker than by a healthy person) in the respiratory and the digestive system. Consequently, people with cystic fibrosis suffer from chronic breathing problems and respiratory infections, and also from digestive problems, which results in total failure to thrive in the organism. Men with cystic fibrosis are in 98% infertile, also women with this disease have significantly reduced fertility. The first sign of the disease in young children is a very salty sweat. The cause of the disease is a mutation (a heritable change) of the CFTR gene located on the chromosome number 7. The severity of the disease is dependent on the type of the mutation in this gene, exceptionally, the disease may even clinically or significantly not manifest itself. In the Czech Republic born every year 40-50 children with cystic fibrosis, but it manages to diagnose hadrly a half of them. The early diagnosis of this disease, i.e. within two months after the birth, significantly affects the treatment and with that related prognosis of the disease.

   Indications for examination:

   • Persistent cough, frequent sinus and respiratory infections
   • Slow weight gain by a relatively large food consumption
   • Intestinal obstruction in neonates and very salty sweat
   • Reproductive disorders

   Material for examination:
   Peripheral blood (2-5 ml) collected into a tube containing K2EDTA/K3EDTA.

   Examination result:
   Examination result within 2 weeks.

10. Molecular examination of thrombophilic mutations

    Examination description:
    Examination of thrombophilic mutations is performed in patients with increased risk of venous thrombosis. For these thromboses are responsible, besides other things, mutations in the genes for some factors involved in the blood coagulation process. Among the most common and as well by us investigated belong Factor V Leiden, Factor II Prothrombin, MTHFR C677T, A1298C and polymorphism in the promoter of the gene PAI-1. These thrombophilic mutations occur in the Czech population in approximately 8% of the inhabitants. Individuals with mutations in the genes for these factors have a greater tendency to formation of blood clots and therefore also a high risk of embolism, premature heart attack, brain stroke or recurrent miscarriages. In women the risk of thrombosis may be further increased by use of hormonal contraception.

    Indications for examination:

    • recurrent spontaneous abortions
    • thromboembolic disease (phlebitis, complications of use of hormonal contraception)
    • reproductive disorders

    Material for examination:
    Peripheral blood (2-5 ml) collected into a tube containing K2EDTA/K3EDTA.

    Examination result:
    Examination result within 2 weeks.

11. Detection of Y chromosome microdeletion (male infertility)
    Examination description:
    Male infertility is often associated with the detection of a microdeletion (a small missing part of a chromosome) in so-called AZF region of the Y chromosome. AZF region is divided into three sub-regions called AZFa, AZFb and AZFc. Genes which occur in this area participate in the process of spermatogenesis and are essential for male reproduction. Each sub-region is associated with a certain stage of spermatogenesis. If there is a microdeletion in AZFb and AZFc sub-region, then it’s phenotypic expression varies from azoospermia to oligozoospermia. Microdeletions in AZFa sub-region are in most cases characterized by the complete absence of spermatogonia.

    Indications for examination:

    • Reproductive disorders
    • Sperm donors

    Material for examination:
    Peripheral blood (2-5 ml) collected into a tube containing K2EDTA/K3EDTA.

    Examination result:
    Examination result within 2 weeks.

12. Gilbert syndrome – hyperbilirubinemia

    Examination description:
    Gilbert syndrome is characterized as a chronic hyperbilirubinemia without signs of other disorder of liver functions or hemolysis. The occurrence of this disease is in about 3-15% of the population and in most cases the patients are completely without difficulty. This disease does not require any special treatment. An accurate and fast diagnostic avoids the risk of repeated examinations and fears of a severe liver disease. This is a partial deficiency in the liver enzyme UDP-glucuronosyltransferase, encoded by the gene UGT1A1. Unequivocal evidence is the detection of a mutation in homozygous form, so it is a recessive mode of inheritance, which means that the mutation must be present in both copies of the gene (one inherited from the mother and one inherited from the father). In subjects with Gilbert syndrome has been described a high risk of serious toxic damage (diarrhea, hematologic toxicity) in case of treatment with irinotecan, which is widely used in treatment of a variety of cancers. Therefore it is recommended to examine the patients before the start of such a treatment.

    Indications for examination:

    • Confirmation of the diagnosis of Gilbert syndrome
    • Prediction of the toxicity of chemotherapy (irinotecan therapy)
    • Positive family history
    • Clarification of the cause of hyperbilirubinemia

    Material for examination:
    Peripheral blood (2-5 ml) collected into a tube containing K2EDTA/K3EDTA.

    Examination result:
    Examination result within 2 weeks.

13. Quick amniotic fluid or chorionic villi examination using Amnio-PCR method

    Examination description:
    Amniocentesis or chorionic villus sampling carries out a qualified doctor after consulting the pregnant patient with a geneticist. Chorionic villus sampling is usually performed between 11th and 15th week of pregnancy and amniocentesis between 16th and 21st week of pregnancy. Most of the chromosomal abnormalities of the fetus comprise the numerical deviations (aneuploidies) of chromosomes 13, 18, 21, X and Y. This is mainly a redundant copy (a trisomy) of chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome), X (XXX syndrome, Klinefelter syndrome) or a missing copy (a monosomy) of chromosome X (Turner syndrome). The Amnio-PCR method (quantitative fluorescent PCR) allows a rapid prenatal detection of most frequent aneuploidies (of chromosomes 13, 18, 21, X and Y) using highly polymorphic STR markers specific for each chromosome. The method does not replace karyotyping, but its main advantage is the speed of carrying out this method.

    Indications for examination:

    • Positive biochemical screening
    • Fetal abnormalities detected by ultrasound
    • Higher age of the pregnant
    • Genetic load in the family

    Material for examination:
    See the material for examination by:

    1. Chromosome analysis of amniotic fluid and fetal blood
    2. Chromosome analysis of chorionic villi and aborted fetuses

    Examination result:
    Result within 48 hours.

14. Rapid examination of samples of aborted fetuses by QF-PCR method

    Examination description:
    The examination is determined to quickly detect the most common aneuploidies (numerical variations) of chromosomes 13, 15, 16, 18, 21, 22, X and Y, that can be found in aborted fetuses.
    The examination should be chosen especially in cases where there is a risk of unsuccessful tissue cultivation caused by cell death and inability to divide. The successful cultivation is namely the prerequisite for the standard method of karyotype examination (detailed analysis of the entire chromosome set).
    Trisomy (genetic aberration in which a certain chromosome in a cell is in quantity of three instead of the usual two) of chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome) and X (syndrome XXX, XXY) often cause severe congenital developmental defects of the fetus that are however compatible with life. The trisomy of chromosomes 15, 16, 22 and monosomy (the chromosome is represented in the cell in only one copy) of all of these chromosomes (except of chromosome X) cause life-incompatible defects leading to pregnancy loss or death in the early postnatal stage.
    The QF-PCR (quantitative fluorescence PCR) method allows rapid detection of the most common aneuploidies of selected chromosomes using highly polymorphic STR markers specific for each chromosome. The method does not replace the karyotype examination.

    Indications for examination:
    Spontaneous abortion
    Artificial abortion

    Material for examination:
    Sampling is performed under ultrasonic control by professionally trained personnel at a specialized workplace. Most suitable for the examination is a part of the muscle tissue of the fetus that is placed in a sterile test tube with 5-10 ml of saline solution. At the same time it is necessary to swab the buccal mucosa of the mother of the fetus and send both samples together with the documentation to the laboratory as soon as possible (preferably on the day of sampling).

    Examination result:
    Result of the examination is delivered within 48 hours.

15. Paternity testing – determination of fatherhood not only for forensic expert opinions

    Examination description:
    Paternity testing is used to determine the relatedness of people (father and son/daughter), whether for personal information or as a proof for judicial proceedings. Our laboratory uses for testing a widely used and proven, commercially available identification kit. The examination is performed on DNA (see Material for examination), which represents a complete summary of all the genetic information of an organism. This DNA is during the examination compared with the DNA of the potential relative. With the probability of at least 99.99% we determine, whether the compared persons are relatives.

    Material for examination:
    Sampling is performed from oral mucosa by using a collection kit with a certificate for legal purposes. The Sampling is completely painless and can be done by yourselves according to our instructions. In case you want to use the results of the testing for legal purposes, the sampling must be carried out in the presence of a, from us secured, expert witness.

    Examination result:
    Result in 2 weeks.

16. Analysis of the COL1A1 and COL1A2 genes (inherited disorder of connective tissue)

    Examination description:
    Analysis of the COL1A1 and COL1A2 genes is performed in patients with suspected congenital disorder of connective tissue. Mutations in these two genes are associated with disease osteogenesis imperfecta and are responsible for up to 90% of the cases of this disease. The disease is autosomal dominant and to the manifestation of the disease is therefore sufficient a mutation present in only one copy of the gene (inherited either from the mother or from the father). If the indicating doctor does not require otherwise, are these two genes examined by NGS. NGS (next generation sequencing) is a highly efficient and reliable method of sequencing, which enables examination of mutations of a high number of genes in a relatively short period of time. If in the genes is not found the causal mutation, it is possible to perform the analysis of the gene COL1A1 using the MLPA method, which is designed for the detection of larger deletions and duplications, which are by sequencing method unrecordable.

    Indications for examination:

    • Confirmation of the diagnosis osteogenesis imperfecta
    • Suspicion of congenital disorder of connective tissue
    • Positive family history
    • Fetal abnormalities detected by ultrasound

    Material for examination:
    Peripheral blood (2-5 ml) collected into a tube containing K2EDTA/K3EDTA.

    Examination result:
    Examination result usually within 2 months.

17. Molecular examination of mutations in GJB2 gene (connexin 26) responsible for the early non-syndromic hearing loss and deafness

    Examination description:
    Examination of the gene GJB2 is performed in patients with suspected early, genetically conditioned hearing loss. It is a congenital disorder that manifests itself already before the development of speech – so called pre-lingual hearing loss. Since this is an autosomal recessive disease, the mutations must be present in both copies of the gene GJB2 (one inherited from the mother and one inherited from the father). Mutations in this gene are responsible for 20-30% of cases of prelingual hearing loss. Standardly it is examined using the Sanger sequencing method, which detects all mutations in this gene.

    Indications for examination:

    • Prelingual non-syndromic hearing loss
    • Positive family history
    • Examination before cochlear implantation

    Material for examination:
    Peripheral blood (2-5 ml) collected into a tube containing K2EDTA/K3EDTA.

    Examination result:
    Examination result is delivered to the indicating doctor usually within 2 weeks.

18. Examination by array-CGH method

    Examination description:
    Examination by array-CGH (comparative genomic hybridization) is a modern method that pushes cytogenetic diagnostic to the molecular level. It is a reliable tool for detecting deletions and duplications across the entire human genome, able to detect up to 100 times smaller aberrations than using a classical microscope karyotyping. The method is used in prenatal, post-natal and pre-implantation diagnostic.

    Indications for examination:

    • Post-natal testing
    • The method is suitable if the patient manifests signs of a possible genetic disorder and the previous cytogenetic and/or molecular genetic testing was without abnormal findings. The method is mainly used in detecting the causes of mental and psychomotor retardations, but it finds application also in other cases (eg. in understanding and clarifying the mechanism of formation of some neoplastic diseases).
    • Prenatal testing
    • In prenatal period is the examination indicated primarily in case of positive ultrasound screening of the fetus. Thanks to a high resolution of the examination and relatively quick delivery of the results is it, after excluding the most common trisomies, increasingly often indicated as the first choice method.
    • Pre-implantation testing
    • Chromosome aneuploidies are in the human germ cells and embryos the major cause of failure of the artificial insemination (IVF – in vitro fertilization) or of the birth of an affected individual. By using array-CGH technique it is possible to examine all the chromosomes and then to choose the most suitable embryo, through which is increased the probability of the birth of a healthy child.

    Material for examination:
    The examination is performed from DNA isolated from the various tissue types. It may be peripheral blood, fetal blood, chorionic villi, amniotic fluid or aborted tissue. Peripheral blood has to be collected into a tube with added anticoagulant agent EDTA. The DNA isolation is performed by ourselves in our laboratory, but it is also possible to deliver already isolated DNA.

    Examination result:
    Result in 1-3 weeks.

19. Analysis of oncogenes of the reproductive system by using NGS (BRCA1, BRCA2, TP53, CHEK2, PALB2 and others)

    Examination description:
    Examination allows fast and efficient mutational analysis of genes, whose germinal mutations verifiably increase the risk of formation of malignant tumors of the reproductive system (particularly breast and ovarian carcinomas) with a focus on malignant tumors in adults. Most of the genes, whose mutations predispose to breast and ovarian cancer, are essential for the correct process of DNA repair, in particular then the repair of double-strand breaks. The loss of function of one of the alleles predisposes to cancer (dominant inheritance), when during the life gained loss of the second allele causes inability to repair the DNA damage and in connection with that also to properly regulate the cell cycle. This starts the process of neoplastic transformation of the affected cell. NGS method (next generation sequencing) is a highly efficient and reliable method of sequencing, which enables examination of mutations of a high number of genes in a relatively short period of time. The examination is performed using a panel, which contains 43 genes and is designed to fully cover their protein coding sequences and splice sites. Achieved coverage with a sufficient quality is usually 97-99%. Among the investigated genes belong primarily BRCA1 and BRCA2 as major predisposing genes of hereditary breast and ovarian cancer, further are contained genes for rarer syndromes with a high risk of breast and ovarian cancer (TP53 – Li-Fraumeni syndrome, STK11 – Peutz-Jeghers syndrome, etc.) and other genes, whose products are involved in DNA repair with a documented risk of formation of breast and ovarian cancer in case of loss of function (eg. CHEK2, PALB2). By the gene with the greatest risk of development of malignant tumors of the reproductive system (BRCA1) is as well performed the examination by MLPA method, which is determined to detect larger deletions and duplications which are by using the sequencing method uncatchable.

    Indications for examination:

    • Positive family history
    • Malignant tumor of the reproductive system with a possible hereditary cause

    Material for examination:
    Anticoagulated peripheral blood (2-5 ml) collected into a tube with K2EDTA/K3EDTA.

    Examination result:
    Examination result usually within 2 months.

20. Analysis of oncogenes of the gastrointestinal system by using NGS (MLH1, MSH2, PMS2, APC, etc.)

    Examination description:
    Examination allows fast and efficient mutational analysis of genes, whose germinal mutations verifiably increase the risk of formation of malignant tumors of the gastrointestinal system. Most of the genes, whose mutations predispose to gastrointestinal tumors, are essential for the correct process of DNA repair, in particular then the repair of double-strand breaks. The loss of function of one of the alleles predisposes to cancer (dominant inheritance), when during the life gained loss of the second allele causes inability to repair the DNA damage and in connection with that also to properly regulate the cell cycle. This starts the process of neoplastic transformation of the affected cell. NGS method (next generation sequencing) is a highly efficient and reliable method of sequencing, which enables examination of mutations of a high number of genes in a relatively short period of time. The examination is performed using a panel, which contains 43 genes and is designed to fully cover their protein coding sequences and splice sites. Achieved coverage with a sufficient quality is usually 97-99%. To evaluate the risk of tumors of the gastrointestinal system are included in particular genes linked to Lynch syndrome (hereditary nonpolyposis colorectal cancer, e.g. MLH1, MSH2, EPCAM and others) and genes associated with the occurrence of polyps (APC – adenomatous polyposis coli, STK11 – Peutz-Jeghers syndrome and others). Particular attention is paid to the pancreatic and the stomach cancer. The panel also contains genes for syndromes with a large risk of cancer of various types such as TP53 (Li-Fraumeni syndrome) or CHEK2.

    Indications for examination:

    • Positive family history
    • Malignant tumor of the gastrointestinal system with a possible hereditary cause
    • Polyposis of the large or the small intestine

    Material for examination:
    Anticoagulated peripheral blood (2-5 ml) collected into a tube with K2EDTA/K3EDTA.

    Examination result:
    Examination result usually within 2 months.

21. Examination of fragile X syndrome (mental retardation, premature ovarian failure, etc.)
    Examination description:
    Fragile X syndrome (FRAXA) is an X-linked inherited disease caused by an expansion of trinucleotide repeats in the FMR1 gene. The expansion over 200 repeats (a full mutation) leads to inactivation of the gene and so to the phenotypic expression of the fragile X syndrome, which is mental retardation associated with dysmorphic features (high forehead, narrow, elongated face, prominent chin, etc.). A lower number of repeats (55 to 200) is marked as so-called premutation. Premutation carriers are not affected by mental retardation, but in men can occur tremor/ataxia syndrome associated with Parkinson’s disease and dementia. In women it may lead to premature ovarian failure. The premutation is in the gene relatively unstable. Therefore it threatens that women with a premutation will have offspring in which the repeats will expand to a full mutation. Examination is performed using a commercially supplied kit, by which is detected the number of repeats of the nucleotides.

    Indications for examination:

    • Positive family history
    • Mental retardation, delayed development, autism spectrum behavior
    • Women with premature ovarian failure

    Material for examination:
    Peripheral blood (2-5 ml) collected into a tube containing K2EDTA/K3EDTA.

    Examination result:
    Result within 2 weeks.

22. Examination of spinal muscular atrophy

    Examination description:
    Spinal muscular atrophy is a neuromuscular disease caused by a defect in the SMN1 gene. In most cases it is about a deletion in this gene, and because it is an autosomal recessive disease, both copies of the gene must be damaged, the copy inherited from the mother as well as the copy inherited from the father. The disease manifests itself by significant muscular hypotonia, hypo- to areflexia of the limbs, breathing difficulties and muscle hypotrophy to atrophy. Examination is performed using a commercially supplied kit and is based on the principle of MLPA (multiplex ligation-dependent probe amplification), which is intended to detect deletions and duplications of selected areas.

    Indications for examination:

    • Positive family history
    • Gamete donors
    • Confirmation o the diagnosis of spinal muscular atrophy

    Material for examination:
    Peripheral blood (2-5 ml) collected into a tube containing K2EDTA/K3EDTA.

    Examination result:
    Result within 2 weeks.

23. Celiac disease (celiac sprue, gluten-sensitive enteropathy)
    Examination description:
    Celiac disease (celiac sprue, gluten-sensitive enteropathy) is a genetically conditioned autoimmune disorder characterized by a damage of the small intestinal mucosa due to intolerance to gluten contained in grain. Typical symptoms are malabsorption, diarrhea, abdominal pain and flatulence. In the lab, we provide the detection of the predispositional alleles (DQ2.5, DQ8 and DQ2.2) occurring in more than 95% of people suffering from celiac disease.

    Indications for examination:

    1. positive family history
    2. gastrointestinal disorders (malabsorption, diarrhea, abdominal pain, flatulence)
    3. other autoimmune disease
    4. sideropenic anemia, failure to thrive

    Material for examination:
    Peripheral blood (2-5 ml) collected into a tube containing K2EDTA/K3EDTA

    Examination result:
    Result within 2 weeks.

24. Ankylosing spondylitis (Bechterew’s disease)
    Examination description:
    Ankylosing spondylitis (Bechterew’s disease) is a chronic inflammatory disease of the spine leading to reduced momentum and accompanied by severe pain. In addition to spinal disorders, frequent inflammations of the peripheral joints, tendons or iris are common. The disease is associated with the presence of the predispositional HLA-B*27 allele, which occurs in more than 90% of cases.
    
    Both examinations are performed using certified kits.

    Indications for examination:

    1. positive family history
    2. lower back pain lasting at least 3 months, improving by exercise
    3. limited momentum of the lumbar spine in the sagittal and frontal plane
    4. noninfectious anterior uveitis
    5. rheumatic disease

    Material for examination:
    Peripheral blood (2-5 ml) collected into a tube containing K2EDTA/K3EDTA

    Examination result:
    Result within 2 weeks.